Zak Kohane

Isaac Kohane, MD, PhD

Chair of the Department of Biomedical Informatics, Harvard Medical School
Marion V. Nelson Professor of Biomedical Informatics, Harvard Medical School
Professor of Pediatrics, Boston Children's Hospital

10 Shattuck Street, Boston, MA 02115

Isaac (Zak) Kohane, MD, PhD is the inaugural Chair of the Department of Biomedical Informatics and the Marion V. Nelson Professor of Biomedical Informatics at Harvard Medical School. He served as co-author of the Institute of Medicine Report on Precision Medicine that has been the template for national efforts. He develops and applies computational techniques to address disease at multiple scales: from whole healthcare systems as “living laboratories” to the functional genomics of neurodevelopment with a focus on autism.

Over the last 30 years, Kohane’s research agenda has been driven by the vision of what biomedical researchers could do to find new cures, provide new diagnoses and deliver the best care available if data could be converted more rapidly to knowledge and knowledge to practice. In so doing, he has designed and led multiple internationally adopted efforts to “instrument” the healthcare enterprise for discovery and to enable innovative decision-making tools to be applied to the point of care. At the same time, the new insights afforded by ’omic-scale molecular analyses have inspired him and his collaborators to work on re-characterizing and reclassifying diseases such as autism, rheumatoid arthritis and cancers. In many of these studies, the developmental trajectories of thousands of genes have been a powerful tool in unraveling complex diseases.

In 1987, Kohane earned his MD/PhD from Boston University and then completed his post-doctoral work at Boston Children’s Hospital, where he has since worked as a pediatric endocrinologist. He joined the faculty at Harvard Medical School in 1992, serving as Director of Countway Library from 2005 to 2015 and as Co-Director of the Center for Biomedical Informatics during the same period, before it became the Department of Biomedical Informatics in July 2015. He is a member of the Institute of Medicine and the American Society for Clinical Investigation. Kohane has published several hundred papers in the medical literature and authored the widely-used books Microarrays for an Integrative Genomics (2003) and The AI Revolution in Medicine: GPT-4 and Beyond (2023). He is also Editor-in-Chief of NEJM AI.

Kohane is always on the lookout for like-minded “quants” who share the same goals to bring a better future for medicine and biomedical science to the present.

Current Postdoctoral Fellowship Opportunities
DBMI Research Areas
DBMI Courses
Multi-PheWAS intersection approach to identify sex differences across comorbidities in 59 140 pediatric patients with autism spectrum disorder.
Authors: Gutiérrez-Sacristán A, Sáez C, De Niz C, Jalali N, DeSain TN, Kumar R, Zachariasse JM, Fox KP, Palmer N, Kohane I, Avillach P.
J Am Med Inform Assoc
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Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
Authors: Marbach F, Stoyanov G, Erger F, Stratakis CA, Settas N, London E, Rosenfeld JA, Torti E, Haldeman-Englert C, Sklirou E, Kessler E, Ceulemans S, Nelson SF, Martinez-Agosto JA, Palmer CGS, Signer RH.
Genet Med
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Measuring health-care delays among privately insured patients with tuberculosis in the USA: an observational cohort study.
Authors: El Halabi J, Palmer N, McDuffie M, Golub JJ, Fox K, Kohane I, Farhat MR.
Lancet Infect Dis
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Finding commonalities in rare diseases through the undiagnosed diseases network.
Authors: Yates J, Gutiérrez-Sacristán A, Jouhet V, LeBlanc K, Esteves C, DeSain TN, Benik N, Stedman J, Palmer N, Mellon G, Kohane I, Avillach P.
J Am Med Inform Assoc
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Finding a new balance between a genetics-first or phenotype-first approach to the study of disease.
Authors: Kohane IS.
Neuron
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The Clinician and Dataset Shift in Artificial Intelligence.
Authors: Finlayson SG, Subbaswamy A, Singh K, Bowers J, Kupke A, Zittrain J, Kohane IS, Saria S.
N Engl J Med
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Validation of an internationally derived patient severity phenotype to support COVID-19 analytics from electronic health record data.
Authors: Klann JG, Estiri H, Weber GM, Moal B, Avillach P, Hong C, Tan ALM, Beaulieu-Jones BK, Castro V, Maulhardt T, Geva A, Malovini A, South AM, Visweswaran S, Morris M, Samayamuthu MJ, Omenn GS, Ngiam KY, Mandl KD, Boeker M, Olson KL, Mowery DL, Follett RW, Hanauer DA, Bellazzi R, Moore JH, Loh NW, Bell DS, Wagholikar KB, Chiovato L, Tibollo V, Rieg S, Li ALLJ, Jouhet V, Schriver E, Xia Z, Hutch M, Luo Y, Kohane IS, Brat GA, Murphy SN.
J Am Med Inform Assoc
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Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.
Authors: Cope H, Barseghyan H, Bhattacharya S, Fu Y, Hoppman N, Marcou C, Walley N, Rehder C, Deak K, Alkelai A.
Mol Genet Genomic Med
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Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.
Authors: Kobren SN, Baldridge D, Velinder M, Krier JB, LeBlanc K, Esteves C, Pusey BN, Züchner S, Blue E, Lee H, Huang A, Bastarache L, Bican A, Cogan J, Marwaha S, Alkelai A, Murdock DR, Liu P, Wegner DJ, Paul AJ, Sunyaev SR, Kohane IS.
Genet Med
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Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.
Authors: Sturrock BRH, Macnamara EF, McGuire P, Kruk S, Yang I, Murphy J.
Mol Genet Genomic Med
View full abstract on Pubmed